ABCC8

(redirected from Sulfonylurea receptor 1)

ABCC8

A gene on chromosome 11p15.1 that encodes a protein of the MRP subfamily of the superfamily of ATP-binding cassette (ABC) transporters, which transport various molecules across extra- and intracellular membranes, many of which are involved in multidrug resistance. ABCC8 modulates ATP-sensitive K+ channels and insulin release.

Molecular pathology
ABCC8 mutations are linked to hyperinsulinaemic hypoglycaemia of infancy and type-2 diabetes.
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References in periodicals archive ?
A new subtype of autosomal dominant diabetes attributable to a mutation in the gene for sulfonylurea receptor 1. Lancet 2003:361:301-307.
Novel De Novo Mutation in Sulfonylurea Receptor 1 Presenting as Hyperinsulinism in Infancy Followed by Overt Diabetes in Early Adolescence.
The channel contains a regulatory subunit, composed of the ABCC8 or ABCC9 (ATP-binding cassette, subfamily C members 8 and 9) gene products referred to as sulfonylurea receptor 1 and 2 (SUR1 and SUR2) proteins [2], respectively.
Mutations in 6 genes have been associated with HI (Table 1): the sulfonylurea receptor 1 (SUR-1; encoded by ABCC8) [2] (6); potassium inward rectifying channel (Kir6.2; encoded by KCNJ11) (7); glucokinase (GK; encoded by GCK) (8); glutamate dehydrogenase (GDH; encoded by GLUD-1) (9); short-chain 3-hydroxyacyl-CoA dehydrogenase (SCHAD; encoded by HADH) (10); and ectopic expression on [beta]-cell plasma membrane of SLC16A1 [encodes monocarboxylate transporter 1 (MCT1)] (11).
[1] Nonstandard abbreviations: HI, hyperinsulinism; [K.sub.ATP], ATP-sensitive potassium; SUR-1, sulfonylurea receptor 1; GK, glucokinase; GDH, glutamate dehydrogenase; SCHAD, short-chain 3-hydroxyacyl-CoA dehydrogenase; MCT1, monocarboxylate transporter 1; IGF2, insulin-like growth factor 2; HA, hyperammonemia; EHHI, exercise-induced HI; BWS, Beckwith-Wiedemann Syndrome; CDG, congenital disorders of glycosylation; AIR, acute insulin response; [sup.18]F-DOPA, 18-fluoro-L-3,4-dihydroxyphenylalanine.
Update of mutations in the genes encoding the pancreatic beta-cell K(ATP) channel subunits Kir6.2 (KCNJ11) and sulfonylurea receptor 1 (ABCC8) in diabetes mellitus and hyperinsulinism.
Identification of a familial hyperinsulinism-causing mutation in the sulfonylurea receptor 1 that prevents normal trafficking and function of KATP channels.
The ABCC8 and KCNJ11 genes (both localized on chromosome 11p15.1) encode the two components of the KATP channel: the pore-forming inward rectifier potassium channel subunit (KIR6.2) and the regulatory subunit sulfonylurea receptor 1 (SUR1) (1,2,3,4,5,6).